rs148912524
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_004260.4(RECQL4):c.1390+3G>A variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00328 in 1,612,376 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004260.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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RECQL4 | ENST00000617875.6 | c.1390+3G>A | splice_region_variant, intron_variant | Intron 7 of 20 | 1 | NM_004260.4 | ENSP00000482313.2 | |||
RECQL4 | ENST00000621189.4 | c.319+3G>A | splice_region_variant, intron_variant | Intron 6 of 19 | 1 | ENSP00000483145.1 | ||||
RECQL4 | ENST00000532846.2 | c.274+3G>A | splice_region_variant, intron_variant | Intron 3 of 8 | 5 | ENSP00000476551.1 | ||||
RECQL4 | ENST00000688394.1 | n.413+3G>A | splice_region_variant, intron_variant | Intron 1 of 3 |
Frequencies
GnomAD3 genomes AF: 0.00242 AC: 368AN: 152248Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00237 AC: 585AN: 246886Hom.: 5 AF XY: 0.00249 AC XY: 335AN XY: 134482
GnomAD4 exome AF: 0.00338 AC: 4928AN: 1460010Hom.: 18 Cov.: 33 AF XY: 0.00338 AC XY: 2458AN XY: 726222
GnomAD4 genome AF: 0.00241 AC: 367AN: 152366Hom.: 0 Cov.: 34 AF XY: 0.00242 AC XY: 180AN XY: 74510
ClinVar
Submissions by phenotype
not provided Benign:7
RECQL4: BP4, BS2 -
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This variant is associated with the following publications: (PMID: 29220673) -
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not specified Benign:2
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Rapadilino syndrome Benign:1
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Rothmund-Thomson syndrome type 2 Benign:1
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Baller-Gerold syndrome Benign:1
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Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at